text: A study researching the role of splice site mutations in cancer supported that a splice site mutation was common in a set of women who were positive for breast and ovarian cancer. These women had the same mutation, according to the findings. An intronic single base-pair substitution destroys an acceptor site, thus activating a cryptic splice site, leading to a 59 base-pair insertion and chain termination. The four families with both breast and ovarian cancer had chain termination mutations in the N-terminal half of the protein. The mutation in this research example was located within the splice-site.
  Splice-site mutations are recurrently found in key lymphoma genes like BCL7A or CD79B due to aberrant somatic hypermutation as the sequence targeted by AID overlaps with the sequences of the splice-sites.